Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease

We describe a boy who developed autoinflammatory (chronic sterile multifocal osteomyelitis) and autoimmune (autoimmune cytopenias; vitiligo) phenotypes who subsequently developed disseminated granulomatous disease. Whole exome sequencing revealed homozygous RAG1 mutations thus expanding the spectrum...

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Hlavní autoři: Reiff, Andreas, Bassuk, Alexander G., Church, Joseph A., Campbell, Elizabeth, Bing, Xinyu, Ferguson, Polly J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer US 2013
Témata:
Astute Clinician Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3873094/
https://ncbi.nlm.nih.gov/pubmed/24122031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-013-9953-7
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